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J Clin Endocrinol Metab. 2017 Jun 1;102(6):1826-1834. doi: 10.1210/jc.2016-2490.

Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.

Author information

Department of Pediatric Science and Surgery, Pediatric Hospital "Policlinico-Giovanni XXIII" of Bari, Bari 072006, Italy.
Department of Translational Medical Science, Section of Pediatrics, Regional Center of Pediatric Diabetology, University of Naples Federico II, Naples 80138, Italy.
Department of Pediatric Sciences, University of Messina, Messina 98122, Italy.
Regional Center for Pediatric Diabetes "G. Stoppoloni," Department of Pediatrics, Second University of Naples, Naples 80138, Italy.
Department of Pediatrics, Endocrine Unit, Diabetes Research Institute (OSR-DRI), Scientific Institute Hospital San Raffaele, Milan 20132, Italy.
Endocrinology and Diabetes Unit, University Department of Pediatric Medicine, Bambino Gesù Children Hospital, Rome 00165, Italy.
Department of Pediatrics, University of Turin, Regina Margherita Hospital, Turin 10126, Italy.
S.O.D. Pediatric Diabetes, Department of Women's and Children Health, Salesi Hospital, Ancona 60123, Italy.
Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome 00173, Italy.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, and CEINGE, Advanced Biotechnology, Naples 80138, Italy.
Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio," and Meyer Children's University Hospital, University of Florence, Florence 50121, Italy.
Pediatric Diabetes and Metabolic Disorders Unit, Department of Surgical Science, Dentistry, Ginecology and Pediatrics, University of Verona, Verona 37129, Italy.
Research Unit of Diabetes and Endocrine Disease, IRCCS Casa del Sollievo della Sofferenza, San Giovanni Rotondo 71013, Italy.
Istituto Giannina Gaslini, Regional Center for Pediatric Diabetes, Genoa 16147, Italy.
Pediatric Unit, Santa Chiara Hospital, Trento 38122, Italy.
Center of Pediatric Diabetology, University of Chieti, Chieti 66100, Italy.
Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena 41122, Italy.
Center for Applied Biomedical Research (CRBA) and Medical Genetics Unit, S. Orsola University Hospital, Bologna 40138, Italy.
Department of Pediatrics, S. Orsola-Malpighi University Hospital, Bologna 40138, Italy.
Juvenile Diabetes Center, Meyer Children's Hospital, Florence 50139, Italy.
Bambino Gesù Children Hospital, IRCCS, Rome 00165, Italy.



An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications.


The aim of the present study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers and the influence of an etiologic diagnosis on therapy.

Design, Setting, and Patients:

This was a retrospective study. The clinical records of 3781 consecutive patients (age, 0 to 18 years) referred to 15 pediatric diabetes clinics with a diagnosis of diabetes or impaired fasting glucose from January 1, 2007 to December 31, 2012 were examined. The clinical characteristics of the patients at their first referral to the centers, type 1 diabetes-related autoantibodies, molecular genetics records, and C-peptide measurements, if requested for the etiologic diagnosis, were acquired.

Main Outcome Measures:

The primary outcome was to assess the percentage of each diabetes subtype in our sample.


Type 1 diabetes represented the main cause (92.4%) of diabetes in this group of patients, followed by monogenic diabetes, which accounted for 6.3% of cases [maturity onset diabetes of the young (MODY), 5.5%; neonatal diabetes mellitus, 0.6%, genetic syndromes, 0.2%]. A genetic diagnosis prompted the transfer from insulin to sulphonylureas in 12 patients bearing mutations in the HNF1A or KCNJ11 genes. Type 2 diabetes was diagnosed in 1% of the patients.


Monogenic diabetes is highly prevalent in patients referred to Italian pediatric diabetes centers. A genetic diagnosis guided the therapeutic decisions, allowed the formulation of a prognosis regarding chronic diabetic complications for a relevant number of patients (i.e.,GCK/MODY), and helped to provide genetic counseling.

[Indexed for MEDLINE]

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